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Results 1 - 10 of 75 for aciduria
  1. 2-hydroxyglutaric aciduria 
    2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  2. Combined malonic and methylmalonic aciduria 
    Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
  3. Argininosuccinic aciduria 
    Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, ...
    https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria - Genetics
  4. Costeff syndrome 
    ... 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). The amount of this substance does not appear ... be diagnosed by the presence of 3-methylglutaconic aciduria. People with Costeff syndrome also have high levels ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  5. CLPB deficiency 
    ... 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). This abnormality, which provides a clue to the ... signs and symptoms of the condition. 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII 3- ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  6. MMADHC gene 
    ... About This Health Condition C2orf25 cblD CL25022 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria methylmalonic aciduria and homocystinuria type D protein, mitochondrial methylmalonic aciduria ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  7. MEGDEL syndrome 
    ... named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like ... 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). MEGDEL syndrome is one of a group of ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  8. 3-methylglutaconyl-CoA hydratase deficiency 
    ... excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of ... levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  9. Dilated cardiomyopathy with ataxia syndrome 
    ... of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA syndrome also have high urine ... signs and symptoms of the condition. 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 defect MGA ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  10. Barth syndrome 
    ... of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria).Even though most features of Barth syndrome are ... X-linked traits to their sons. 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
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